z-logo
Premium
A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975–1984
Author(s) -
Czeizel A. E.,
Vitéz M.,
Kodaj I.,
Lenz W.
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb03838.x
Subject(s) - etiology , medicine , polydactyly , tibia , hypoplasia , aplasia , population , pediatrics , birth weight , surgery , anatomy , pregnancy , biology , genetics , environmental health
Czeizel AE, Vitéz M, Kodaj I, Lenz W. A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975–1984. Clin Genet 1993: 44: 32–36. © Munksgaard, 1993 Radial and tibial deficiencies are frequently (70%) associated with non‐limb abnormalities. Isolated radial and tibial deficiencies may have a different etiology: in this study radial deficiencies were more frequent, there were milder subtypes and one‐limb involvement was found in 70% of cases, tibial deficiencies were rare, mild subtypes did not occur and in general more limbs were involved. Among multimelic cases, one case had hypoplasia of the tibia with polydactyly and two cases had tibial aplasia with split hand \pm foot of autosomal dominant inheritance. Of 40 cases, four were familial. Findings of a case‐control study on this population‐based and validated 10‐year cohort showed a lower mean birth weight and a higher rate of low birth weight in cases with isolated radial and tibial deficiency.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here